FlyBase Allele Report: Dmel\N[Ax-E2]

General Information

Symbol

Dmel\N^Ax-E2

Species

D. melanogaster

Name

FlyBase ID

FBal0012858

Feature type

allele

Associated gene

Dmel\N

Associated Insertion(s)

Carried in Construct

Also Known As

Ax^E2, N^AxE2

Key Links

Genomic Maps

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Allele class

gain of function allele

antimorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

antimorphic allele - genetic evidence

(de Celis and Garcia-Bellido, 1994)

gain of function allele

(Chen et al., 1996, Matsuno et al., 1995)

Mutagen

ethyl methanesulfonate

Mutations Mapped to the Genome

Type

Location

Additional Notes

References

point_mutation

X:3,166,127..3,166,127 [+]

Nucleotide change:

C3166127T

Reported nucleotide change:

C?T

Amino acid change:

H1167Y | N-PA; H1167Y | N-PB

Reported amino acid change:

H1167Y

(Lieber et al., 1992)

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Progenitor genotype

Cytology

Polytene chromosomes are normal (Foster, 1975).

Nature of the lesion

Statement

Reference

H to Y substitution in the 29th EGF repeat of the N protein.

(Gorman and Girton, 1992)

Mutation is within EGF element 29 of the N extracellular domain.

(Lieber et al., 1992)

Amino acid replacement: H1167Y.

(Lieber et al., 1992)

Amino acid replacement: H1167Y. Mutant partially sequenced; correlated with single amino acid replacements within six adjacent EGF-homologous elements of the N protein; has Gly at residue 2057 characteristic of Oregon R rather than Ser of Canton S (Kelley, Kidd, Deutsch and Young, 1987). Histidine replaced by tyrosine at residue 1167 in EGF-like repeat 29; CAT --> TAT (Hartley, Xu and Artavanis-Tsakonas, 1987; Kelley, Kidd, Deutsch and Young, 1987).

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal cell adhesion | germline clone

(Tseng et al., 2014)

lethal (with N^Ax-9)

(Xu et al., 1990)

partially lethal (with N^Ax-1)

(Grushko et al., 1998)

partially lethal (with N^Ax-9)

(Grushko et al., 1998)

partially lethal - majority die (with N^Ax-9)

(Mukherjee et al., 2005)

viable

(Indrasamy et al., 2000, Grushko et al., 1998)

viable (with N^Ax-16)

(Grushko et al., 1998)

viable (with N^Ax-71d)

(Grushko et al., 1998)

visible

(Ramain et al., 2001, Rollins et al., 1999, Grushko et al., 1998, Matsuno et al., 1995, Palka et al., 1990, Rabinow and Birchler, 1990)

visible | dominant

(Fuwa et al., 2006, Selva et al., 2001)

visible | recessive

(Indrasamy et al., 2000, Fostier et al., 1998)

Phenotype Manifest In

adult thoracic sensillum

(Indrasamy et al., 2000)

campaniform sensillum of anterior crossvein

(Palka et al., 1990)

female germline stem cell | germline clone

(Tseng et al., 2014)

female germline stem cell | germline clone | progressive

(Tseng et al., 2014)

macrochaeta

(Grushko et al., 1998, de Celis and Garcia-Bellido, 1994)

microchaeta

(Ramain et al., 2001, de Celis and Garcia-Bellido, 1994)

orbital bristle

(Indrasamy et al., 2000)

thorax & macrochaeta

(Matsuno et al., 1995)

twin sensillum of margin 1

(Palka et al., 1990)

twin sensillum of margin 2

(Palka et al., 1990)

wing vein

(Lee et al., 2013, Selva et al., 2001, Rollins et al., 1999, Grushko et al., 1998, Matsuno et al., 1995, de Celis and Garcia-Bellido, 1994, Rabinow and Birchler, 1990)

wing vein L4

(Tien et al., 2008, Gause et al., 2006, Gorman and Girton, 1992)

wing vein L5

(Tien et al., 2008, Gause et al., 2006, Fostier et al., 1998, Gorman and Girton, 1992)

wing vein L5 | distal

(Fuwa et al., 2006)

Detailed Description

Statement

Reference

The contact area between N^Ax-E2 mutant female germline stem cells and the niche is smaller than in wild type controls.

N^Ax-E2 mutant female germline stem cell (GSC) clones are lost more rapidly from the niche than their neighbouring control GSCs.

(Tseng et al., 2014)

Heterozygotes show a loss of wing veins.

(Lee et al., 2013)

N^Ax-E2 mutants exhibit a loss of the fourth and fifth wing veins in male flies caused by a gain of function of Notch.

(Tien et al., 2008)

Heterozygotes have a gap at the distal end of wing vein L5.

(Fuwa et al., 2006)

Mutants have shortened L4 and L5 wing veins.

(Gause et al., 2006)

A small percentage of N^Ax-9/N^Ax-E2 flies survive to adulthood.

(Mukherjee et al., 2005)

Mutant flies have 90.88 +/- 1.94 thoracic microchaetae per heminotum (compared to the wild-type number of 130.35 +/- 1.54).

(Ramain et al., 2001)

Heterozygotes show loss of wing vein, with a penetrance of 8.7%.

(Selva et al., 2001)

N^Ax-E2 mutants exhibit elevated levels of asymmetry and reduced mean character size relative to Canton-S flies for thoracic bristles.

N^Ax-E2 mutants show significantly reduced mean character size for orbital bristles compared to Canton-S flies.

(Indrasamy et al., 2000)

Shortened wing veins.

(Rollins et al., 1999)

The number of missing bristles remains roughly equal with increasing temperature in homozygous flies, while the number and length of wing vein breaks increases with increasing temperature.

(Grushko et al., 1998)

Some macrochaetae on the thorax are missing. Gaps in wing veins are present.

(Matsuno et al., 1995)

N^su42c suppresses the pupal lethality of N^Ax-9/N^Ax-E2.

(Diederich et al., 1994)

Abruptex wing phenotype dominantly enhanced by Su(H)². Su(H)¹⁶ dominantly suppresses the lethality of N^Ax-E2/N^Ax-9 transheterozygotes.

(Fortini and Artavanis-Tsakonas, 1994)

Length of microchaetae, macrochaetae and longitudinal wing veins is reduced with respect to that of wild type. Enhances the N haplo-insufficient phenotype of loss of the wing margin. Heteroallelic combinations with lethal Abruptex alleles show stronger phenotypes at 29^oC than when heterozygous with a N null at 29^oC.

(de Celis and Garcia-Bellido, 1994)

Short wing veins IV and V.

(Gorman and Girton, 1992)

Heterozygotes with Dl^sup4 and Dl^sup5 exhibit shortening and fragmenting of vein IV only. Wing phenotype is enhanced by mutations at da.

(Brand and Campos-Ortega, 1990)

Some hemizygous males occasionally lack the twin sensilla of the wing margin, the ventral sensillum of wing vein L3, and the anterior cross vein sensillum.

(Palka et al., 1990)

Homozygotes exhibit wing vein defects. Wing phenotype in unaffected by vg and sca mutations but enhanced when combined with deficiencies of vg and sca or just vg (wing scalloping and increased venation defects).

(Rabinow and Birchler, 1990)

Mutant phenotype of transheterozygotes can be rescued when in combination with dx^ENU homozygotes. Male hemizygotes with dx^ENU have a low fertility and with dx^S1M they are sterile.

(Xu and Artavanis-Tsakonas, 1990)

Viable, enhancer type. N^Ax-E2/N^Ax-9 heterozygotes are lethal.

(Xu et al., 1990)

homozygous viable phenotype like N^Ax-1. Temperature sensitive for morphological phenotypes (Foster, 1975) but stable for viability (Portin and Siren, 1976). Viable in heterozygotes with N; Notch-wing phenotype is enhanced. At 18^oC and 25^oC, complementary in heterozygotes with recessive alleles at Notch; at 29^oC, spl and N^nd-2 are weakly expressed (Portin, 1977a). Heterozygotes N^nd-3 spl N^Ax-E2/+++ are like spl/spl with suppression of wing-vein gaps; N^nd-3++/+ spl N^Ax-E2 and +spl N^Ax-E2/+++ show mild expression of spl (Foster, 1975). N^Ax-E2 is viable with alleles N^Ax-71d and N^Ax-16; lethal with lethal alleles N^Ax-59b and N^Ax-59d and with N^Ax-E1, N^Ax-9, and N^Ax-1 (Foster, 1975; Portin, 1975) and the lethality with N^Ax-1 is more pronounced at 29^oC (Portin and Siren, 1976). In N^Ax-E2/N^Ax-1, the TSP for lethality is monophasic from the end of the third instar to early pupa (Portin and Siren, 1976). In N^Ax-E2/N^Ax-9, the focus of lethality is close to hypodermal sites of ventral thoracic structures, and in surviving gynandromorphs, the negative interaction between alleles is autonomous (Portin, 1977). N^Ax-E2 is placed on the genetic map of Notch close to and to the right of spl (Foster).

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

N^Ax-9/N^Ax-E2, dx^ENU/dx[+] has partially lethal - majority die phenotype, enhanceable by krz^S095214

(Mukherjee et al., 2005)

N^Ax-E2 has visible | dominant phenotype, enhanceable by fng[+]/fng¹³

(Selva et al., 2001)

N^Ax-E2 has visible | dominant phenotype, enhanceable by frc[+]/frc⁰⁰⁰⁷³

(Selva et al., 2001)

N^Ax-E2 has visible | dominant phenotype, enhanceable by frc[+]/frc¹⁰⁰⁹⁸

(Selva et al., 2001)

N^Ax-E2 has visible phenotype, enhanceable by Su(dx)^sp

(Fostier et al., 1998)

N^Ax-E2 has visible phenotype, enhanceable by Su(dx)⁴

(Fostier et al., 1998)

N^Ax-E2 has visible phenotype, enhanceable by Su(dx)⁵⁶

(Fostier et al., 1998)

N^Ax-E2 has visible phenotype, enhanceable by Df(2L)Su(dx)-7

(Fostier et al., 1998)

N^Ax-1/N^Ax-E2 has partially lethal phenotype, enhanceable by Dp(3;3)MKRS-D2

(Grushko et al., 1998)

N^Ax-1/N^Ax-E2 has partially lethal phenotype, enhanceable by Dp(3;3)bxd¹¹⁰

(Grushko et al., 1998)

N^Ax-9/N^Ax-E2 has partially lethal phenotype, enhanceable by Dp(3;3)MKRS-D2

(Grushko et al., 1998)

N^Ax-9/N^Ax-E2 has partially lethal phenotype, enhanceable by Dp(3;3)bxd¹¹⁰

(Grushko et al., 1998)

Suppressed by

Statement

Reference

N^Ax-E2 has visible | dominant phenotype, suppressible by dx¹⁵²/dx[+]

(Fuwa et al., 2006)

N^Ax-9/N^Ax-E2 has partially lethal - majority die phenotype, suppressible | partially by dx^ENU/dx[+]

(Mukherjee et al., 2005)

N^Ax-E2 has visible phenotype, suppressible | partially by dsh^hs.PA

(Ramain et al., 2001)

N^Ax-9/N^Ax-E2 has lethal phenotype, suppressible by M285^M285

(Go and Artavanis-Tsakonas, 1998)

N^Ax-9/N^Ax-E2 has lethal phenotype, suppressible by Df(3R)Dl-BX6

(Xu et al., 1990)

N^Ax-9/N^Ax-E2 has lethal phenotype, suppressible by Dl^9P

(Xu et al., 1990)

N^Ax-9/N^Ax-E2 has lethal phenotype, suppressible by mam¹⁰

(Xu et al., 1990)

Enhancer of

Statement

Reference

N[+]/N^Ax-E2 is an enhancer of visible | heat sensitive phenotype of H^C2.hs

(Johannes and Preiss, 2002)

Suppressor of

Statement

Reference

N⁺/N^Ax-E2 is a suppressor | partially of visible | heat sensitive phenotype of Dcr-2^UAS.cDa, Eogt^GD5084, Scer\GAL4^en.PU

(Müller et al., 2013)

Other

Statement

Reference

N^Ax-E2, Su(dx)^sp has partially lethal - majority die phenotype

(Fostier et al., 1998)

Dp(3;3)MKRS-D2, N^Ax-E2 has partially lethal phenotype

(Grushko et al., 1998)

Dp(3;3)bxd¹¹⁰, N^Ax-E2 has partially lethal phenotype

(Grushko et al., 1998)

N^Ax-E2, Su(dx)^sp, dx^ENU has lethal phenotype

(Busseau et al., 1994)

N^Ax-9/N^Ax-E2, Su(dx)[+]/Su(dx)¹, dx^ENU has lethal phenotype

(Busseau et al., 1994)

Phenotype Manifest In

Enhanced by

Statement

Reference

N^Ax-E2 has wing vein phenotype, enhanceable by shams^e01256/shams^e01256

(Lee et al., 2013)

N^Ax-E2 has wing vein phenotype, enhanceable by fng[+]/fng¹³

(Selva et al., 2001)

N^Ax-E2 has wing vein phenotype, enhanceable by frc[+]/frc⁰⁰⁰⁷³

(Selva et al., 2001)

N^Ax-E2 has wing vein phenotype, enhanceable by frc[+]/frc¹⁰⁰⁹⁸

(Selva et al., 2001)

N^Ax-E2 has wing vein phenotype, enhanceable by Su(H)²

(Rollins et al., 1999)

N^Ax-E2 has wing vein phenotype, enhanceable by Su(dx)^sp

(Fostier et al., 1998)

N^Ax-E2 has wing vein phenotype, enhanceable by Su(dx)⁴

(Fostier et al., 1998)

N^Ax-E2 has wing vein phenotype, enhanceable by Su(dx)⁵⁶

(Fostier et al., 1998)

N^Ax-E2 has wing vein phenotype, enhanceable by Df(2L)Su(dx)-7

(Fostier et al., 1998)

N^Ax-E2 has wing vein phenotype, enhanceable by E(spl)m8-HLH¹

(Grushko et al., 1998)

Suppressed by

Statement

Reference

N^Ax-E2 has wing vein L4 phenotype, suppressible by Ero1L[+]/Ero1L^23T

(Tien et al., 2008)

N^Ax-E2 has wing vein L5 phenotype, suppressible by Ero1L[+]/Ero1L^23T

(Tien et al., 2008)

N^Ax-E2 has wing vein L5 | distal phenotype, suppressible by dx¹⁵²/dx[+]

(Fuwa et al., 2006)

N^Ax-E2 has wing vein L4 phenotype, suppressible | partially by Nipped-A[+]/Nipped-A³²³

(Gause et al., 2006)

N^Ax-E2 has wing vein L4 phenotype, suppressible | partially by Nipped-A[+]/Nipped-A^NC194

(Gause et al., 2006)

N^Ax-E2 has wing vein L4 phenotype, suppressible | partially by dom^k08108/dom[+]

(Gause et al., 2006)

N^Ax-E2 has microchaeta phenotype, suppressible | partially by dsh^hs.PA

(Ramain et al., 2001)

N^Ax-E2 has wing vein phenotype, suppressible | partially by Df(2R)Nipped-D341.1

(Rollins et al., 1999)

N^Ax-E2 has wing vein phenotype, suppressible | partially by Df(2R)Nipped-E338

(Rollins et al., 1999)

N^Ax-E2 has wing vein phenotype, suppressible by Nipped-A^222.3

(Rollins et al., 1999)

N^Ax-E2 has wing vein phenotype, suppressible by RpL38^45-72

(Rollins et al., 1999)

N^Ax-E2 has wing vein phenotype, suppressible by Su(H)¹⁶

(Rollins et al., 1999)

N^Ax-E2 has phenotype, suppressible | partially by Df(2R)Nipped-E43

(Rollins et al., 1999)

N^Ax-E2 has macrochaeta phenotype, suppressible by E(spl)m8-HLH¹

(Grushko et al., 1998)

N^Ax-E2 has macrochaeta phenotype, suppressible | partially by pyd^J14

(Chen et al., 1996)

N^Ax-E2 has phenotype, suppressible by sno^71e3

(Coyle-Thompson and Banerjee, 1993)

NOT suppressed by

Statement

Reference

N^Ax-E2 has wing vein L4 phenotype, non-suppressible by Nipped-A[+]/Nipped-A^NC96

(Gause et al., 2006)

N^Ax-E2 has wing vein L4 phenotype, non-suppressible by Nipped-A[+]/Nipped-A^NC105

(Gause et al., 2006)

N^Ax-E2 has wing vein L4 phenotype, non-suppressible by Nipped-A[+]/Nipped-A^NC106

(Gause et al., 2006)

N^Ax-E2 has wing vein L4 phenotype, non-suppressible by Nipped-A[+]/Nipped-A^NC186

(Gause et al., 2006)

N^Ax-E2 has wing vein L4 phenotype, non-suppressible by Ada2b[+]/Ada2b^HD-5

(Gause et al., 2006)

N^Ax-E2 has wing vein L4 phenotype, non-suppressible by Ada2b[+]/Ada2b¹

(Gause et al., 2006)

N^Ax-E2 has wing vein L4 phenotype, non-suppressible by Ada2b[+]/Ada2b²

(Gause et al., 2006)

N^Ax-E2 has wing vein L4 phenotype, non-suppressible by Ada2b[+]/Ada2b³⁴¹²

(Gause et al., 2006)

N^Ax-E2 has phenotype, non-suppressible by vg¹

(Rollins et al., 1999)

N^Ax-E2 has phenotype, non-suppressible by Chi^e5.5

(Rollins et al., 1999)

N^Ax-E2 has phenotype, non-suppressible by Nipped-B^292.1

(Rollins et al., 1999)

N^Ax-E2 has phenotype, non-suppressible by Nipped-B⁴⁰⁷

(Rollins et al., 1999)

Enhancer of

Statement

Reference

N[+]/N^Ax-E2 is an enhancer of wing vein | ectopic | heat sensitive phenotype of H^C2.hs

(Johannes and Preiss, 2002)

N[+]/N^Ax-E2 is an enhancer of wing | heat sensitive phenotype of H^C2.hs

(Johannes and Preiss, 2002)

N^Ax-E2 is an enhancer of wing margin bristle phenotype of Cdc42^N17.UAS, Scer\GAL4^Bx-MS1096

(Baron et al., 2000)

N^Ax-E2 is an enhancer of wing margin phenotype of Cdc42^N17.UAS, Scer\GAL4^Bx-MS1096

(Baron et al., 2000)

Suppressor of

Statement

Reference

N⁺/N^Ax-E2 is a suppressor | partially of wing blade posterior compartment | heat sensitive phenotype of Dcr-2^UAS.cDa, Eogt^GD5084, Scer\GAL4^en.PU

(Müller et al., 2013)

N^Ax-E2 is a suppressor of phenotype of dx^unspecified

(Gorman and Girton, 1992)

Additional Comments

Genetic Interactions

Statement

Reference

The wing blistering phenotype seen in the posterior compartment of wings in flies expressing Eogt^GD5084 under the control of Scer\GAL4^en.PU in the presence of Dcr-2^Scer\UAS.cDa is dominantly partially suppressed if the flies are also heterozygous for N^Ax-E2.

(Müller et al., 2013)

Removal of one copy of Ero1L in N^Ax-E2 mutants, through a Ero1L^23T heterozygous background leads to suppression of the wing vein loss phenotype.

(Tien et al., 2008)

dx¹⁵²/+ completely suppresses the loss of the distal end of wing vein L5 which is seen in N^Ax-E2/+ flies.

(Fuwa et al., 2006)

Wing vein L4 is shortened in N^Ax-E2 mutants; heterozygosity for Nipped-A³²³, Nipped-A^NC194 or dom^k08108 increases the length of L4.

(Gause et al., 2006)

The percentage of N^Ax-9/N^Ax-E2 flies surviving to adulthood is dramatically increased by dx^ENU/+. Survival of N^Ax-9/N^Ax-E2 dx^ENU/+ flies to adulthood is significantly decreased by krz^S047819/+ or krz^S095214/+.

(Mukherjee et al., 2005)

The number of microchaetae in N^Ax-E2 flies is increased to 126.23 +/- 1.59 by expression of dsh^hs.PA using a heat pulse.

(Ramain et al., 2001)

The penetrance of the loss of wing vein phenotype seen in N^Ax-E2/+ flies (8.7%) is enhanced to 95% by one copy of frc¹⁰⁰⁹⁸, to 30% by one copy of frc⁰⁰⁰⁷³ or to 62% by one copy of fng¹³.

(Selva et al., 2001)

Nipped-B⁴⁰⁷, l(2)41Ae⁷, Chi^e5.5 and vg¹ have little or no effect on the N^Ax-E2 wing vein phenotype.

(Rollins et al., 1999)

Homozygous viability is decreased if the flies also carry Dp(3;3)MKRS-D2 or Dp(3;3)bxd¹¹⁰.

(Grushko et al., 1998)

The number of bristles is rescued almost to wild type in N^Ax-E2 ; E(spl)¹ double mutants, while the number and length of wing vein breaks are higher in N^Ax-E2; E(spl)¹ double mutants than in N^Ax-E2 single mutants.

(Grushko et al., 1998)

The bristle loss phenotype of N^Ax-E2/+ flies is partially suppressed by pyd^J14.

(Chen et al., 1996)

Triple homozygotes of Su(dx)^sp with N^Ax-E2, dx^ENU are inviable.

(Busseau et al., 1994)

Lethality of N^Ax-E2/N^Ax-9 heterozygotes can be rescued by Df(3R)Dl-BX6, Dl^9P or mam¹⁰.

(Xu et al., 1990)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

N^Ax-9

(Go and Artavanis-Tsakonas, 1998)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

51660

y¹ N^Ax-E2; sna^Sco/CyO, P{GAL4-Kr.C}DC3, P{UAS-GFP.S65T}DC7

Notes on Origin

Discoverer

Foster.

Induced in: Oregon-R stock.

Comments

N^Ax-E2 shows negative complementation with N^Ax-M1.

(de Celis and Garcia-Bellido, 1994)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (8)

Reported As

Symbol Synonym

Ax-^E2

(Xu and Artavanis-Tsakonas, 1990)

Ax^e2

(Rollins et al., 1999)

N^AX

(Tien et al., 2008)

N^AXE2

(Tseng et al., 2014)

N^Ax-E2

(Lee et al., 2013, Gause et al., 2006)

N^AxE-2

(Tien et al., 2008)

N^AxE2

(Müller et al., 2013)

Name Synonyms

Secondary FlyBase IDs

References (46)

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